Sven KRACKER | Institut Imagine

Presentation

PI of research group: Pathological mechanisms underlying primary antibody deficiencies

Sven KRACKER

Lymphocyte activation and susceptibility to Epstein-Barr virus

Contact :

01 42 75 43 36

sven.kracker@inserm.fr

About

Sven Kracker is a Research Director at CNRS whose work focuses on elucidating the molecular mechanisms underlying primary antibody deficiencies. His research combines phenotypic, functional, and genetic approaches to uncover disease causing pathways and identify novel therapeutic targets. He has contributed to defining several genetic etiologies, including gain- and loss-of-function mutations in PIK3CD and PIK3R1 that lead to hyperactive PI3Kδ signaling. More recently, his team has investigated the role of IRF4, a key transcription factor in B-cell differentiation, in immune dysregulation and immunodeficiency. His projects are supported by French national research programs and major charitable foundations.

Financements

Scientific Publications

Publications

2026

Ribosomal RNA processing impairments in a B cell immunodeficient patient with..., Rockefeller University Press
2025

A heterozygous USB1 variant linked to immunodeficiency., J Hum Immun
2024

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 i..., J Exp Med
2024

Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with ..., J Allergy Clin Immunol
2024

Clinical and functional spectrum of RAC2-related immunodeficiency., Blood
2023

Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated P..., Mol Ther Methods Clin Dev
2023

A Case Report of Folliculin-Interacting Protein 1 Deficiency., J Clin Immunol
2023

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry..., J Allergy Clin Immunol
2023

A neomorphic mutation in the interferon activation domain of IRF4 causes a do..., J Exp Med
2023

A multimorphic mutation in IRF4 causes human autosomal dominant combined immu..., Sci Immunol
2021

Activated PI3Kinase Delta Syndrome-A Multifaceted Disease., Front Pediatr
2020

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension ..., J Immunol
2020

Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol
2020

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D..., J Pediatr
2020

Topoisomerase 2β mutation impairs early B-cell development., Blood
2019

Concomitant and deficiencies cause chronic active Epstein-Barr virus infect..., J Exp Med
2019

Loss of ARHGEF1 causes a human primary antibody deficiency., J Clin Invest
2018

Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome res..., Ann Rheum Dis
2018

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K..., Front Immunol
2017

Finding patients using similarity measures in a rare diseases-oriented clinic..., J Biomed Inform
2017

Mutations in the adaptor-binding domain and associated linker region of p110δ..., Haematologica
2016

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr..., J Allergy Clin Immunol
2016

X-linked primary immunodeficiency associated with hemizygous mutations in the..., J Allergy Clin Immunol
2016

Clinical and immunologic phenotype associated with activated phosphoinositide..., J Allergy Clin Immunol
2015

A human immunodeficiency caused by mutations in the PIK3R1 gene., J Clin Invest

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Presentation

About

Financements

Scientific Publications

Ribosomal RNA processing impairments in a B cell immunodeficient patient with..., Rockefeller University Press

A heterozygous USB1 variant linked to immunodeficiency., J Hum Immun

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 i..., J Exp Med

Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with ..., J Allergy Clin Immunol

Clinical and functional spectrum of RAC2-related immunodeficiency., Blood

Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated P..., Mol Ther Methods Clin Dev

A Case Report of Folliculin-Interacting Protein 1 Deficiency., J Clin Immunol

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry..., J Allergy Clin Immunol

A neomorphic mutation in the interferon activation domain of IRF4 causes a do..., J Exp Med

A multimorphic mutation in IRF4 causes human autosomal dominant combined immu..., Sci Immunol

Activated PI3Kinase Delta Syndrome-A Multifaceted Disease., Front Pediatr

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension ..., J Immunol

Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D..., J Pediatr

Topoisomerase 2β mutation impairs early B-cell development., Blood

Concomitant and deficiencies cause chronic active Epstein-Barr virus infect..., J Exp Med

Loss of ARHGEF1 causes a human primary antibody deficiency., J Clin Invest

Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome res..., Ann Rheum Dis

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K..., Front Immunol

Finding patients using similarity measures in a rare diseases-oriented clinic..., J Biomed Inform

Mutations in the adaptor-binding domain and associated linker region of p110δ..., Haematologica

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr..., J Allergy Clin Immunol

X-linked primary immunodeficiency associated with hemizygous mutations in the..., J Allergy Clin Immunol

Clinical and immunologic phenotype associated with activated phosphoinositide..., J Allergy Clin Immunol

A human immunodeficiency caused by mutations in the PIK3R1 gene., J Clin Invest